Cellosaurus cell line SBG5-iPSC (CVCL

Cross-references
Cell line name	SBG5-iPSC
Synonyms	SBG5-(12706 T > C)-hiPSC
Accession	CVCL_C6UN
Resource Identification Initiative	To cite this cell line use: SBG5-iPSC (RRID:CVCL_C6UN)
Comments	Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:7461; MT-ND5; Simple; p.Phe124Leu (m.12706T>C); ClinVar=VCV000009698; Zygosity=Heteroplasmic (PubMed=34662843).
Disease	Leigh disease (NCIt: C84814) Leigh syndrome (ORDO: Orphanet_506)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_C6UM (SBG5)
Category	Induced pluripotent stem cell
Publications	PubMed=34662843; DOI=10.1016/j.scr.2021.102572; PMCID=PMC10332439 Meshrkey F., Cabrera Ayuso A., Rao R.R., Iyer S. Quantitative analysis of mitochondrial morphologies in human induced pluripotent stem cells for Leigh syndrome. Stem Cell Res. 57:102572-102572(2021)
Encyclopedic resources	Wikidata; Q117704844
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3